[Federal Register Volume 89, Number 44 (Tuesday, March 5, 2024)]
[Notices]
[Pages 15876-15878]
From the Federal Register Online via the Government Publishing Office [www.gpo.gov]
[FR Doc No: 2024-04618]


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DEPARTMENT OF HEALTH AND HUMAN SERVICES

Health Resources and Services Administration


Request for Information: Nomination and Evidence-Based Review 
Process of the Advisory Committee on Heritable Disorders in Newborns 
and Children

AGENCY: Health Resources and Services Administration (HRSA), Department 
of Health and Human Services.

ACTION: Notice of request for public comment.

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SUMMARY: At the request of the Advisory Committee on Heritable 
Disorders in Newborns and Children (ACHDNC or

[[Page 15877]]

Committee), HRSA is requesting input from the public on the process 
used by the Committee for nomination and evidence-based review of 
conditions that are considered for inclusion in the Recommended Uniform 
Screening Panel (RUSP). As an entity that advises the Secretary of 
Health and Human Services (Secretary) based on evidence-based 
information, ACHDNC periodically considers and evaluates its processes. 
During the November 2023 meeting, ACHDNC hosted listening sessions to 
learn more from stakeholders regarding their views on the process used 
by ACHDNC for nomination and evidence-based review of conditions. In 
support of this work, HRSA is seeking public input on a series of 
questions that will help inform the nomination and review processes.

DATES: Comments on this FRN should be received no later than April 4, 
2024.

ADDRESSES: Responses must be submitted electronically as email 
attachments to CDR Leticia Manning, MPH, ACHDNC's Designated Federal 
Officer, at: [email protected].

FOR FURTHER INFORMATION CONTACT: CDR Leticia Manning, MPH, Designated 
Federal Officer, Maternal and Child Health Bureau, HRSA, 5600 Fishers 
Lane, Rockville, Maryland 20857; 301-443-8335; or [email protected]. A 
copy of the ACHDNC charter may be obtained by accessing the ACHDNC 
website at: https://www.hrsa.gov/advisory-committees/heritable-disorders.

SUPPLEMENTARY INFORMATION: ACHDNC was established in 2003 and provides 
advice and recommendations to the Secretary on the development of 
newborn screening activities, technologies, policies, guidelines, and 
programs for effectively reducing morbidity and mortality in newborns 
and children having, or at risk for, heritable disorders. ACHDNC 
reviews and reports regularly on newborn and childhood screening 
practices, recommends improvements in the national newborn and 
childhood screening programs, and fulfills requirements stated in the 
authorizing legislation. In addition, ACHDNC's recommendations 
regarding inclusion of additional conditions for screening on the RUSP, 
following adoption by the Secretary, are evidence-informed preventive 
health services provided for in comprehensive guidelines supported by 
HRSA pursuant to section 2713 of the Public Health Service Act (42 
U.S.C. 300gg-13), for which certain health insurance plans and issuers 
are required to provide coverage without cost-sharing. The ACHDNC meets 
four times each calendar year or at the discretion of the Designated 
Federal Officer in consultation with the Chair.

Responses

    HRSA is seeking responses on the following questions. Responses to 
all questions are voluntary, and a response to each question is not 
required.
    Nomination Process: The current nomination process can be found 
here: https://www.hrsa.gov/advisory-committees/heritable-disorders/condition-nomination. The Committee has already received feedback from 
newborn screening stakeholders on the current nomination process, and 
based on this feedback, the Committee is requesting that HRSA publish 
this notice to obtain additional public feedback on the proposed 
revisions to the questions addressed within the nomination package.
    Please provide feedback in response to the questions on the 
proposed elements below (i.e., the condition, newborn screening, and 
benefits and harms of newborn screening), including:
    (1) Whether these questions add clarity to what is required for a 
condition nomination package?
    (2) Whether appropriate language is used to describe the required 
information for each section?
    (3) Whether this question-based format makes clearer the 
requirements for a nomination? If not, please propose edits and/or 
changes to what is provided.
    Please cite any available information that you may have to support 
your responses.

Section I: The Condition

    (1) What is the specific condition to be screened for (``target 
condition'') and how is it defined?
    (2) How is the condition diagnosed as part of usual clinical care? 
Why is the current clinical diagnostic approach inadequate?
    (3) What is the reported birth prevalence of the condition in the 
United States (or comparable newborn population)? Is the condition more 
common in certain populations?
    (4) Describe the severity of the condition when detected as part of 
usual clinical care.

Section II: Newborn Screening

    (1) What testing approach(es) are you suggesting for newborn 
screening? Please be specific regarding the approach to screening 
(e.g., dried-blood spot, point-of-care screening, what specimen or 
test). Is there one or more tiers of testing that should occur before a 
diagnostic referral to a clinical specialist?
    (2) How is the condition diagnosed after an at-risk child is 
identified through newborn screening? (i.e., How does a clinical 
specialist confirm that an infant has the condition after referral from 
the newborn screening program?)
    (3) What other conditions could be identified through newborn 
screening for the target condition as nominated? This includes 
phenotypes of the target condition that are not being nominated for 
newborn screening (e.g., late-onset, mild variants). Will screening for 
the target condition identify carriers?
    (4) What examples are there of screening and diagnosis for the 
condition at a prospective population level (e.g., through state 
newborn screening (NBS) program or pilot studies)? Has at least one 
case of the condition been identified, diagnosed, and treated through a 
prospective population-based approach?
    (5) Based on at least one example of a prospective population level 
study from question #4, please describe the epidemiologic elements a-e 
below. (Include a peer-reviewed study, if available.):
    (a) The birth prevalence of the target condition.
    (b) The birth prevalence of the other conditions that could be 
identified by screening.
    (c) The percentage of newborns with the target condition who had a 
positive screen (sensitivity of NBS test).
    (d) The percentage of newborns with one of the other conditions who 
were identified through newborn screening with the target condition.
    (e) The percentage of newborns without the target condition who had 
a negative screen (specificity of NBS test).

Section III: Benefits and Harms of Newborn Screening

    (1) What is the expected benefit to infants and/or families for 
detection of the condition through newborn screening compared to 
clinical care identification?
    (2) What is the expected harm to infants and/or families for 
detection of the condition through newborn screening compared to 
clinical care identification?
    (3) Are there other benefits or harms that may result from 
implementing a state newborn screening program? (e.g., false positive 
or negative results, infants identified with other conditions, or 
opportunity costs to a state public health system)
    (4) What treatment and management protocols are available for 
newborns identified with the condition through newborn screening?

[[Page 15878]]

    (5) What plan for longitudinal follow-up of newborns identified 
through newborn screening is available? For example, will there be a 
patient registry available for use by clinical providers or by 
individuals/families? For how many years would infants with the 
condition be followed?
    Evidence-based Review Process: The current criteria for ACHDNC to 
recommend inclusion of a condition on the RUSP to the Secretary is 
based primarily on peer-reviewed evidence regarding the certainty that 
benefits of universal screening outweigh harms (``net benefit''). These 
criteria have been largely applied to focus on the benefits and harms 
to the individual child, with much less consideration of benefits and 
harms to the family, states, or to the public health system. Financial 
and opportunity costs have received less attention by ACHDNC, in part 
because of the lack of published evidence regarding such topics.
    Below is an example of what published evidence should be considered 
by the Committee when conducting a condition evidence review. The 
Committee requests feedback regarding the example below.
    When weighing certainty and net benefit of screening for a 
condition, the Committee should consider the full range of relevant, 
published, peer-reviewed evidence. Although such evidence in relation 
to benefits and harms to the individual child remain paramount, the 
Committee should also consider benefits and harms to the family and to 
society at large, including disproportionate impacts or disparities 
related to specific conditions or screening. For example, the Committee 
could consider evidence demonstrating benefits for the family regarding 
future planning (e.g., finances, geographic proximity to services, home 
design, etc.), earlier access to early intervention programs, or 
opportunity costs to the public health system. Ideally, potential harms 
and benefits should be supported by evidence directly relevant to the 
condition under review. When such evidence is lacking, Committee 
members could consider peer-reviewed evidence from other disorders to 
the extent that such evidence is considered potentially relevant to the 
condition under consideration.

Special Note to Commenters

    The information obtained through this request for information (RFI) 
may help inform ACHDNC processes. Per the ACHDNC Charter, the Committee 
has the responsibility to decide the processes for nomination, evidence 
review, and making recommendations regarding the RUSP. How Committee 
members ultimately vote on recommending a condition for inclusion on 
the RUSP will continue to reflect their judgment on the certainty of 
net benefit to the entire population of infants born in the United 
States.
    This RFI is issued solely for information and planning purposes; it 
does not constitute a Request for Proposal, applications, proposal 
abstracts, or quotations. This RFI does not commit the U.S. government 
to contract for any supplies or services or make a grant or cooperative 
agreement award. Further, HRSA is not seeking proposals through this 
RFI and will not accept unsolicited proposals. HRSA will not respond to 
questions about the policy issues raised in this RFI. Responders are 
advised that the U.S. government will not pay for any information or 
administrative costs incurred in response to this RFI; all costs 
associated with responding to this RFI will be solely at the interested 
party's expense.
    Authority: ACHDNC is authorized by section 1111(g) of the Public 
Health Service Act, 42 U.S.C. 300b-10(g), and the Federal Advisory 
Committee Act, 5 U.S.C. chapter 10.

Maria G. Button,
Director, Executive Secretariat.
[FR Doc. 2024-04618 Filed 3-4-24; 8:45 am]
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